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Article

Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa.

Neurobiology of disease - 1 May 2007

Mordes Daniel, Yuan Liya, Xu Lili, Kawada Mariko, Molday Robert S, Wu Jane Y

Abstract excerpt

Several ubiquitously expressed genes encoding pre-mRNA splicing factors have been associated with autosomal dominant retinitis pigmentosa (adRP), including PRPF31, PRPF3 and PRPF8. Molecular mechanisms by which defects in pre-mRNA splicing factors cause photoreceptor degeneration are not clear. To investigate the role of pre-mRNA splicing in photoreceptor gene expression and function, we have begun to search for...

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Source

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Identifiers

PMID: 17350276
DOI: 10.1016/j.nbd.2006.08.026
PMCID: PMC2014719

Genes

PRPF31
FSCN2
PRPF3
PRPF8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa.PMID 17350276Read ↗

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Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

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